文章：

GNAQ/GNA11相关良性与恶性病变——共同的胚胎组织起源还是组织依赖的巧合？

GNAQ/GNA11-Related Benign and Malignant Entities—A Common Histoembriologic Origin or a Tissue-Dependent Coincidence

原文发布日期：30 October 2024

DOI: 10.3390/cancers16213672

类型: Article

开放获取: 是

英文摘要：

Uveal melanoma (UM), recognized as the most prevalent primary intraocular malignancy in adults, is primarily driven by mutations in theGNAQandGNA11genes. These genetic alterations are also implicated in other conditions, which exhibit distinct morphological characteristics. In this article, we investigate the role ofGNAQandGNA11mutations across varied disorders (e.g., UM, skin blue nevi, and hemangiomas), emphasizing the shared pathogenic mechanisms that connect them despite their differing clinical manifestations. By investigating the molecular pathways affected by these mutations, we provide insights into the potential for targeted therapies that could address not only UM but also other disorders associated withGNAQ/GNA11mutations. Moreover, we discuss the role of SOX10-positive perivascular cells that may be implicated in the complex pathophysiology of GNAQ/GNA11-related entities. Understanding the common molecular foundation of these conditions opens new ways for research and treatment opportunities, potentially leading to more effective, personalized therapeutic strategies.

摘要翻译： 

葡萄膜黑色素瘤（UM）是成人中最常见的原发性眼内恶性肿瘤，其发生主要受GNAQ和GNA11基因突变驱动。这些基因改变也与其他具有不同形态特征的疾病相关。本文探讨了GNAQ和GNA11突变在不同疾病（如UM、皮肤蓝痣和血管瘤）中的作用，重点阐述了尽管临床表现各异，但这些疾病之间共有的致病机制。通过研究这些突变影响的分子通路，我们深入探讨了靶向治疗不仅可能对UM有效，也可能适用于其他与GNAQ/GNA11突变相关疾病的潜力。此外，我们还讨论了SOX10阳性血管周围细胞在GNAQ/GNA11相关疾病复杂病理生理学中可能发挥的作用。理解这些疾病的共同分子基础为研究和治疗开辟了新途径，有望推动更有效、个性化的治疗策略发展。

原文链接：

GNAQ/GNA11-Related Benign and Malignant Entities—A Common Histoembriologic Origin or a Tissue-Dependent Coincidence